Jean‐François Soucy

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Myriam Srour, Fadi F. Hamdan, Dianalee McKnight et al. · The American Journal of Human Genetics · 2015 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Olaf R.F. Mook, Martin A. Haagmans, Jean‐François Soucy et al. · Journal of Medical Genetics · 2013 · 42 citations · Full text

Life Sciences, Cardiology, Genetics +17

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disorders

Rebekah Jobling, Dimitri J. Stavropoulos, Christian R. Marshall et al. · Journal of Medical Genetics · 2018 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Éliane Beauregard‐Lacroix, Smrithi Salian, Hyunyun Kim et al. · European Journal of Human Genetics · 2019 · 33 citations · Full text

Life Sciences, Molecular Medicine, Human Genetics +6

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun et al. · Genetics in Medicine · 2017 · 31 citations · Full text

Life Sciences, Genetics, Oncology +11